[Infantile cortical hyperostosis (the Caffey-Silvermann syndrome)]. / Infantilní kortikální hyperostóza (syndrom Caffey-Silvermann).

In 1984-1989 at the First Paediatric Clinic of the Motol Faculty Hospital six patients with the diagnosis of infantile cortical hyperostosis (Caffey-Silvermann syndrome) were hospitalized. Non-familial concurrence of the disease was involved. All children developed the disease before the age of 4.5 months, four before the age of three months. Among the six patients was only one girl. As to pathological findings there was a markedly elevated FW in 5/6, leucocytosis in 5/6, thrombocytosis in 3/4, eosinophilia in 3/6, elevated alkaline phosphatases in 2/6. The affection was four times on the mandible, once in the area of the hip joints and in one instance it was multifocal. The authors present one detailed case-history with extreme affection of the clavicle which was originally taken for a bone tumour.

[Familial cerebral degeneration with myocardial involvement and dyserythropoiesis]. / Familiární cerebrální degenerace s postizením myokardu a dyserytropoesou.

A combination of dyserythropoietic anaemia, encephalopathy and cardiomyopathy was found in two siblings of different sex. They shared the same clinical history and pathomorphology what made authors suppose that it was a new not yet described syndrome with presumed autosomal recessive heredity.

[Long-term catheterization of the central venous system in children]. / Dlouhodobá kanylace centrálního zilního systému u detí.

The authors explain the principle of central venous catheters (CVC) for long-term use, indicators for insertion, mode of insertion and principles of care of children with these special CVC. The authors inserted since 1982 42 CVC of the Broviac-Hickmann type in 32 children (age 22 days--15 years; body weight 2.4-17 kg). Since 1987 they inserted 16 CVC for long-term use with a subcutaneous capsule to 16 children and adolescents (age 1 years-17 years; body weight 11.5-73.5 kg). These CVC were inserted under general anaesthesia, in catheterization theatre. There were no technical complications. The authors treated and followed under standard protocol a group of 14 children with 20 CVC of the Broviac type (age at onset of treatment 22-715 days; body weight 2.4-10 kg) as well as the above described group of 16 children and adolescents with CVC for long-term use with a subcutaneous capsule. During treatment of children with Broviac catheters five technical complications were observed (mechanical damage of the CVC); in children with CVC with a subcutaneous capsule one technical complication was recorded (damage of the chamber of the Chemoport Vygon system, by incorrect puncture). The authors searched for thromboembolic and infectious complications. In four of 20 children with Broviac catheters purulent phlebitis of the cannulated veins was found (all died)--one thromboembolic complication developed on average after 234 days of use of Broviac catheters.(ABSTRACT TRUNCATED AT 250 WORDS)

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin.

Three males (aged 10 years, 3 years 9 months and 2 years 8 months) with profound sphingomyelinase deficiency are presented. The sphingomyelin storage in the liver biopsies attained 30-fold, 65-fold and 16-fold increases against controls, respectively. Levels of bis(monoacylglyceryl) phosphate were also increased. In two cases the bone marrow contained foam cells with liquid crystals of sphingomyelin. Besides the visceral involvement dominated by hepatosplenomegaly, all three cases showed discrete, so far stationary (8 years, 42 months and 28 months) neuropathic features and retinal lesions resembling the classical cherry-red spot. Electrophysiological examinations showed a variable reduction of peripheral nerve conduction velocity and prolongation of the latencies of somatosensory, visual and auditory evoked potentials. Ultrastructural examination of skin nerves showed a slight storage, mainly in Schwann cells. In some myelinated fibres there were pseudomyelinic ovoids. The cases therefore displayed features of both A and B types of sphingomyelinase deficiency and should be conventionally classified as intermediate. However, the very low levels of in vivo sphingomyelin hydrolysis (not exceeding 6%, against 30 +/- 10% in type B and 77 +/- 5% in controls) were clearly within the range of type A values (5 +/- 2%). Accordingly, we suggest that the cases may be biochemically classified as variants of type A disease.

[Disseminated histiocytosis X]. / Diseminovaná histiocytosis X.

Three cases of 4-year-, 16-month- and 8-month-old children suffering from a disseminated form of histiocytosis X showed overlapping of Hand-Schüller-Christian syndrome and Letterer-Siwe syndrome in clinical picture, biopsy and autopsy. Morphological lesion does not develop simultaneously in all the organs. Some of them tend to steatosis and fibrosis of histiocytosis infiltrations, which the others do not.